Cytochrome C oxidase deficiency in childhood

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F09%3A4071" target="_blank" >RIV/00064165:_____/09:4071 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/09:4071
Result on the web
—
DOI - Digital Object Identifier
—

Result language
angličtina
Original language name
Cytochrome C oxidase deficiency in childhood
Original language description
Cytochrome c oxidase (COX) is the terminal enzyme of the respiratory chain. COX deficiency is the most common mitochondrial disease in childhood. We present results of the clinical, biochemical and molecular analyses in 106 children. Isolated COX deficiency was found in 51 children and COX deficiency combined with decreased activity another respiratory chain complex in 55 children. Failure to thrive was observed in 64% of children, encephalopathy in 90%, hypotonia in 72%, Leigh syndrome in 20% and cardiomyopathy in 23%. Increased levels of lactate and alanine were found in blood and CSF. 72% of children died in early childhood. Mutations c.845_846delCT in SURF1 and g.1541G>A in SCO2 gene were prevalent. Mitochondrial disorders represent a heterogeneousgroup of diseases. Owing to their incidence, absence of therapy and serious social-economical consequences, elucidation of the mechanisms of mitochondrial dysfunction is essential for diagnostics, prevention and future therapeutic protoc
Czech name
—
Czech description
—

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
—

Project
<a href="/en/project/NR9410" target="_blank" >NR9410: Biochemical and molecular basis of mitochondrial energetic metabolism in neonates</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)